Potential Major Breakthrough in Early Detection of Gynecological Cancers

As Martha Kempner reported this week: “In what could be a major breakthrough, researchers developed a test—similar to the Pap Test—that was able to find ovarian and uterine cancer cells in cervical fluid. Though it is years from the market it has the potential to save thousands of lives.” Here is an overview of the PapGene test, developed by Johns Hopkins Kimmel Cancer Center researchers.

Yesterday morning, I saw one of the Centers for Disease Control’s (CDC) gynecological cancer awareness ads, then I got an email from a colleague organization reminding me that January is Cervical Health Awareness Month (what? you hadn’t marked your calendar?), and then my Google News Alerts informed me of ground-breaking new research that might make early detection of ovarian, endometrial, and uterine cancer possible. So it seemed pretty clear what I was going to write about.

The ad I saw featured five women of different ages sitting on stools explaining the early symptoms of gynecological cancers that each had experienced; one said she felt bloated all the time, another was spotting despite have already gone through menopause, and a third complained of pain in her abdomen all the time. The voice-over in this 60-second spot explains that these are all warning signs of cervical, ovarian, uterine, vaginal, and vulvar cancers which are all gynecological cancers. There are other ads in the series including one that suggests women “Be Brave” and get checked for cancer.

The CDC is conducting this campaign with good reason: In 2009 (the last year for which we have numbers), 84,155 women were diagnosed with a gynecologic cancer and 27,813 died from one. Though these cancers are slow to develop, the signs and symptoms—which also include back pain, vaginal discharge, pressure in the abdomen, changes in bathroom habits, itching or burning of the vulva, and changes in skin on the vulva—are often mistaken for normal menstrual issues, constipation, or other simple problems. The campaign is designed to encourage “women to pay attention to their bodies and know what is normal for them, so they can recognize the warning signs of gynecologic cancers and seek medical care.”

At this point most women are aware of the importance of Pap Smears which are used to detect cervical cancer (and if not, perhaps Cervical Health Awareness Month will help). Pap Smears use cervical fluid to screen for cervical cancer as well as pre-cancerous changes to the cells on the cervix which can then be treated and prevent cancer from ever developing. While it was once recommended that women start getting these tests as soon as they became sexually active and then get one every year after that, recent guidelines suggest that especially when paired with tests for HPV (which is the cause of most cases of cervical cancer) they can be effective even when given much less frequently.

Pap Tests (originally called Pap Smears) were developed by Georgios Papanicolaou in 1943 and have since become a routine screening for women. The Pap Test has reduced the rate of cervical cancer in this country by an impressive 75 percent.

Unfortunately, there are no similar tests for other forms of gynecological cancer including ovarian cancer and uterine cancer (also called endometrial cancer). Over 69,000 women were diagnosed with these two forms of cancer in 2012. If caught in early stages, 90 percent of women diagnosed with uterine cancer will live for five years or more after diagnosis. Nonetheless, 8,000 women in the United States die from this disease each year. Ovarian cancer is even more deadly as it is often caught too late and only 46 percent of women with the disease are expected to live five or more years after diagnosis. Ovarian cancer kills 15,000 women in this country each year. Previous attempts at early screening for ovarian—using a blood test or sonograms—have been unsuccessful.

Today, however, there is new hope for a test similar to the Pap Test that could detect the cells of other cancers in the reproductive tract. By combining genome mapping efforts with research into gynecological cancers, researchers have made a potentially major breakthrough.

One team of scientists at Johns Hopkins University was already using data from the Human Genome Project to try to detect cancer cells circulating in the blood and other body fluids. They posited that ovarian and uterine tumors would shed cells that would then collect in cervical fluid. They brought in another team, also at Hopkins, that had been examining tumor cells from gynecological cancers, and then looked at the research yet another colleague was doing on the specific DNA mutations in ovarian and uterine tumors.

They then used this information to conduct DNA analysis on cervical fluid collected during Pap Tests on 46 women diagnosed with either ovarian or endometrial cancer. They found that 100 percent of endometrial cancers and 40 percent of ovarian cancers shed detectable cells into the cervical fluid. Moreover, many of these cancers were at stage one when they could be most easily cured. They also tested the cervical fluid of 14 women who did not have cancer and found that the test did not give any false positives.

The researchers, who named this new method the Pap-Gene Test in honor of Dr. Papanicolaou, referred to this as a “proof of concept” study and acknowledge that it will be years before this test becomes routine. Still, they believe that after much more testing it could be easily piggy-backed onto the existing pap-test which is already given to millions of women each year.

Cervical cancer was once a major killer of women in this country but with widespread early detection through the Pap Test we’ve brought the incidence and death rate way down; in 2009 fewer than 4,000 died from this disease in the United States. Imagine how many lives could be saved with a similar test for ovarian and uterine cancer.